Canonical Allele Identifier: CA1143599400
Community Standard Title: NM_001854.4(COL11A1):c.990+47T=
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103025474A= , CM000663.2:g.103025474A= GRCh38
NC_000001.10:g.103491030A= , CM000663.1:g.103491030A= GRCh37
NC_000001.9:g.103263618A= NCBI36
NG_008033.1:g.88023T=
NG_008033.2:g.88023T=

Transcript Alleles

HGVS Amino-acid Change
NM_001854.4:c.990+47T= MANE Select NP_001845.3:n.990+47T=
ENST00000370096.9:c.990+47T= MANE Select ENSP00000359114.3:n.990+47T=
NM_001190709.1:c.873+47T= NP_001177638.1:n.873+47T=
NM_001190709.2:c.873+47T= NP_001177638.1:n.873+47T=
NM_001854.3:c.990+47T= NP_001845.3:n.990+47T=
NM_080629.2:c.1026+47T= NP_542196.2:n.1026+47T=
NM_080629.3:c.1026+47T= NP_542196.2:n.1026+47T=
NM_080630.3:c.897+742T= NP_542197.3:n.897+742T=
NM_080630.4:c.897+742T= NP_542197.3:n.897+742T=
NR_134980.1:n.1308+47T=
NR_134980.2:n.1334+47T=
ENST00000353414.8:c.873+47T= ENSP00000302551.6:n.873+47T=
ENST00000358392.6:c.1026+47T= ENSP00000351163.2:n.1026+47T=
ENST00000370096.7:c.990+47T= ENSP00000359114.3:n.990+47T=
ENST00000427239.5:c.1026+47T= ENSP00000408640.1:n.1026+47T=
ENST00000461720.6:c.1143+47T= ENSP00000494909.1:n.1143+47T=
ENST00000512756.5:c.897+742T= ENSP00000426533.1:n.897+742T=
ENST00000635193.1:c.308+47T=
ENST00000644186.1:c.990+47T= ENSP00000493821.1:n.990+47T=
ENST00000645458.1:c.990+47T= ENSP00000494179.1:n.990+47T=
ENST00000647280.1:c.990+47T= ENSP00000494583.1:n.990+47T=
XM_011540719.1:c.990+47T= XP_011539021.1:n.990+47T=
XM_011540721.1:c.-1439+47T= XP_011539023.1:n.-1439+47T=
XM_017000334.1:c.1143+47T= XP_016855823.1:n.1143+47T=
XM_017000335.1:c.1137+47T= XP_016855824.1:n.1137+47T=
XM_017000336.1:c.1143+47T= XP_016855825.1:n.1143+47T=
XR_946545.1:n.1388+47T=